VAIHS
MCID: VSC058
MIFTS: 48

Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome (VAIHS)

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic...

MalaCards integrated aliases for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome:

Name: Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome 56 73
Adenosine Deaminase 2 Deficiency 56 24 52 25
Ada2 Deficiency 24 52 25 73
Dada2 56 24 52 25
Polyarteritis Nodosa, Childhood-Onset 56 52 39
Pan 56 74 73
Childhood-Onset Polyarteritis Nodosa 52 25
Vasculitis Due to Ada2 Deficiency 52 58
Vasculitis Due to Dada2 52 58
Vaihs 56 73
Polyarteritis Nodosa, Childhood-Onset; Pan 56
Adenosine Deaminase 2 Deficiency; Dada2 56
Deficiency of Adenosine Deaminase 2 24
Polyarteritis Nodosa 73
Periarteritis Nodosa 73
Deficiency of Ada2 25
Sneddon Syndrome 25

Characteristics:

Orphanet epidemiological data:

58
vasculitis due to ada2 deficiency
Inheritance: Autosomal recessive; Age of onset: All ages;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
variable manifestations
variable age at onset, usually in first decade, but can occur later


HPO:

31
vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:

Orphanet: 58  
Rare circulatory system diseases
Rare systemic and rhumatological diseases
Rare immunological diseases


Summaries for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic...

Genetics Home Reference : 25 Adenosine deaminase 2 (ADA2) deficiency is a disorder characterized by abnormal inflammation of various tissues. Signs and symptoms can begin anytime from early childhood to adulthood. The severity of the disorder also varies, even among affected individuals in the same family. Inflammation is a normal immune system response to injury and foreign invaders (such as bacteria). However, ADA2 deficiency causes abnormal, unprovoked inflammation that can damage the body's tissues and organs, particularly blood vessels. (Inflammation of blood vessels is known as vasculitis.) Other tissues affected by abnormal inflammation can include the skin, gastrointestinal system, liver, kidneys, and nervous system. Depending on the severity and location of the inflammation, the disorder can cause disability or be life-threatening. Signs and symptoms that can occur with ADA2 deficiency include fevers that are intermittent, meaning they come and go; areas of net-like, mottled skin discoloration called livedo racemosa; an enlarged liver and spleen (hepatosplenomegaly); and recurrent strokes affecting structures deep in the brain that can start in the first few years of life. In some people, ADA2 deficiency causes additional immune system abnormalities that increase the risk of bacterial and viral infections. ADA2 deficiency is sometimes described as a form of polyarteritis nodosa (PAN), a disorder that causes inflammation of blood vessels throughout the body (systemic vasculitis). However, not all researchers classify ADA2 deficiency as a type of PAN.

MalaCards based summary : Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome, also known as adenosine deaminase 2 deficiency, is related to sneddon syndrome and cutaneous polyarteritis nodosa. An important gene associated with Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome is ADA2 (Adenosine Deaminase 2). The drugs Methotrexate and Methylprednisolone have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and liver, and related phenotypes are hypertension and optic atrophy

NIH Rare Diseases : 52 Adenosine Deaminase 2 deficiency is an inherited disorder causing inflammation in the body, especially in the tissues that make up the blood vessels (vasculitis). Though the severity and age of onset can vary, most patients begin having symptoms within the first decade of life. Symptoms may include the following: recurrent strokes , fevers, muscle pain, an enlarged liver or spleen, and areas of skin discoloration known as livedo racemosa or livedo reticularis . The strokes can affect physical or cognitive functioning. Other symptoms may include high blood pressure , aneurysms , immune system abnormalities, and necrosis of the fingers/toes. ADA2 deficiency is thought to be caused by mutations in the CECR1 gene and inherited in an autosomal recessive manner. Mutations in the CECR1 gene have also been associated with a familial form of Sneddon syndrome . Individuals with this form of Sneddon syndrome have been reported to have similar findings as those with ADA2 deficiency but with a later onset.

OMIM : 56 Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS) is an autosomal recessive multisystem disorder with onset in childhood. The phenotype is highly variable, but most patients have features of a systemic vascular inflammatory disorder with skin ulceration and recurrent strokes affecting the small vessels of the brain resulting in neurologic dysfunction. Other features may include recurrent fever, elevated acute-phase proteins, myalgias, lesions resembling polyarteritis nodosa, and/or livedo racemosa or reticularis with an inflammatory vasculitis on biopsy. Some patients may have renal and/or gastrointestinal involvement, hypertension, aneurysms, or ischemic necrosis of the digits (summary by Zhou et al., 2014 and Navon Elkan et al., 2014). Some patients present with clinical immunodeficiency (van Eyck et al., 2014). Lee (2018) reviewed the basic biology of ADA2 and the various clinical manifestations of ADA2 deficiency, which include vasculitis affecting small- and medium-sized vessels causing early-onset stroke with subsequent neurologic signs, skin ulcerations resembling polyarteritis nodosa, peripheral neuropathy, immunodeficiency, autoimmune features, and hematologic abnormalities, including anemia and leukopenia. The clinical features are highly pleiotropic, and patients can present with only some of these main features. The hematologic manifestations of the disorder may sometimes resemble Diamond-Blackfan anemia (see, e.g., DBA1, 105650). (615688)

UniProtKB/Swiss-Prot : 73 Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome: An autosomal recessive, systemic necrotizing vasculitis that affects medium and small arteries. The ensuing tissue ischemia can affect any organ, including the skin, musculoskeletal system, kidneys, gastrointestinal tract, and the cardiovascular and nervous systems. Organ involvement and disease severity are highly variable. Clinical features include recurrent ischemic stroke affecting the small vessels of the brain and resulting in neurologic dysfunction, recurrent fever, myalgias, livedoid rash, gastrointestinal pain and hepatosplenomegaly.

GeneReviews: NBK544951

Related Diseases for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic...

Diseases related to Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 623)
# Related Disease Score Top Affiliating Genes
1 sneddon syndrome 12.9
2 cutaneous polyarteritis nodosa 12.9
3 primary polyarteritis nodosa 12.7
4 single-organ polyarteritis nodosa 12.7
5 secondary polyarteritis nodosa 12.6
6 obsolete: pediatric polyarteritis nodosa 12.5
7 retinal vasculitis 11.8
8 autoimmune inner ear disease 11.8
9 churg-strauss syndrome 11.3
10 kawasaki disease 11.2
11 microscopic polyangiitis 10.9
12 aneurysm 10.9
13 hepatitis b 10.8
14 glomerulonephritis 10.8
15 mononeuritis multiplex 10.7
16 allergic angiitis 10.7
17 familial mediterranean fever 10.7
18 purpura 10.7
19 polyneuropathy 10.7
20 kidney disease 10.6
21 cholecystitis 10.6
22 hepatitis 10.6
23 acute kidney failure 10.6
24 hepatitis c 10.6
25 temporal arteritis 10.5
26 hypereosinophilic syndrome 10.5
27 hepatitis c virus 10.5
28 malignant hypertension 10.5
29 cryoglobulinemia 10.5
30 peritonitis 10.5
31 antiphospholipid syndrome 10.5
32 cerebrovascular disease 10.5
33 colitis 10.5
34 crescentic glomerulonephritis 10.5
35 thrombocytosis 10.5
36 connective tissue disease 10.5
37 branchiootic syndrome 1 10.4
38 myocardial infarction 10.4
39 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
40 orchitis 10.4
41 rapidly progressive glomerulonephritis 10.4
42 coronary artery aneurysm 10.4
43 mononeuropathy 10.4
44 intestinal perforation 10.4
45 myopathy 10.4
46 granulomatosis with polyangiitis 10.4
47 sensorineural hearing loss 10.4
48 diarrhea 10.4
49 neuritis 10.4
50 crohn's disease 10.4

Graphical network of the top 20 diseases related to Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome:



Diseases related to Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome

Symptoms & Phenotypes for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic...

Human phenotypes related to Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome:

31 (show all 35)
# Description HPO Frequency HPO Source Accession
1 hypertension 31 occasional (7.5%) HP:0000822
2 optic atrophy 31 occasional (7.5%) HP:0000648
3 anemia 31 occasional (7.5%) HP:0001903
4 decreased antibody level in blood 31 occasional (7.5%) HP:0004313
5 leukocytosis 31 occasional (7.5%) HP:0001974
6 lupus anticoagulant 31 occasional (7.5%) HP:0025343
7 splenomegaly 31 very rare (1%) HP:0001744
8 hepatomegaly 31 very rare (1%) HP:0002240
9 portal hypertension 31 very rare (1%) HP:0001409
10 pancytopenia 31 very rare (1%) HP:0001876
11 elevated hepatic transaminase 31 very rare (1%) HP:0002910
12 thrombocytosis 31 very rare (1%) HP:0001894
13 stroke 31 very rare (1%) HP:0001297
14 esophageal varix 31 very rare (1%) HP:0002040
15 leukopenia 31 very rare (1%) HP:0001882
16 urticarial plaque 31 very rare (1%) HP:0030351
17 ataxia 31 HP:0001251
18 arthritis 31 HP:0001369
19 fever 31 HP:0001945
20 immunodeficiency 31 HP:0002721
21 abdominal pain 31 HP:0002027
22 peripheral neuropathy 31 HP:0009830
23 myalgia 31 HP:0003326
24 aphasia 31 HP:0002381
25 ophthalmoplegia 31 HP:0000602
26 agitation 31 HP:0000713
27 headache 31 HP:0002315
28 purpura 31 HP:0000979
29 vasculitis 31 HP:0002633
30 hemiplegia 31 HP:0002301
31 cutis marmorata 31 HP:0000965
32 raynaud phenomenon 31 HP:0030880
33 erythema nodosum 31 HP:0012219
34 panniculitis 31 HP:0012490
35 dilatation 31 HP:0002617

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
ataxia
aphasia
agitation
headache
hemiplegia
more
Abdomen Spleen:
splenomegaly

Immunology:
immunodeficiency
leukocytosis
leukopenia
hypogammaglobulinemia (in some patients)

Head And Neck Eyes:
ophthalmoplegia
optic atrophy (1 patient)

Neurologic Peripheral Nervous System:
raynaud phenomenon
neuropathy

Abdomen Gastrointestinal:
gastrointestinal pain

Cardiovascular Vascular:
hypertension (in some patients)
vasculitis, small and medium vessels
stroke, ischemic
stroke, hemorrhagic
polyarteritis nodosa
more
Metabolic Features:
fever, recurrent

Genitourinary Kidneys:
renal artery aneurysms

Skeletal Feet:
ischemic digital necrosis

Skeletal:
arthritis

Abdomen Liver:
hepatomegaly

Muscle Soft Tissue:
myalgia

Skin Nails Hair Skin:
purpura
erythema nodosum
livedo reticularis
livedo racemosa
urticarial rash

Skin Nails Hair Skin Histology:
panniculitis
vasculitis in the reticular dermis
inflammatory infiltrate
interstitial neutrophils and macrophages
perivascular t lymphocytes
more
Hematology:
anemia (in some patients)
thrombocytosis (in some patients)
lupus anticoagulant (in some patients)

Laboratory Abnormalities:
abnormal liver enzymes
acute-phase reactants during fever

Head And Neck Face:
facial nerve palsies

Skeletal Hands:
ischemic digital necrosis

Clinical features from OMIM:

615688

Drugs & Therapeutics for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic...

Drugs for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 66)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methotrexate Approved Phase 4 59-05-2, 1959-05-2 126941
2
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
3
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
4 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
5
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
6
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
7
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
8 Alkylating Agents Phase 4
9 Dermatologic Agents Phase 4
10 Methylprednisolone Acetate Phase 4
11 Gastrointestinal Agents Phase 4
12 Protective Agents Phase 4
13 Antiemetics Phase 4
14 Anti-Inflammatory Agents Phase 4
15 Neuroprotective Agents Phase 4
16 Hormone Antagonists Phase 4
17 glucocorticoids Phase 4
18 Antineoplastic Agents, Hormonal Phase 4
19 Autonomic Agents Phase 4
20 Hormones Phase 4
21 Antibiotics, Antitubercular Phase 4
22 Antitubercular Agents Phase 4
23
Lamivudine Approved, Investigational Phase 2 134678-17-4 60825
24
Cyclophosphamide Approved, Investigational Phase 2 6055-19-2, 50-18-0 2907
25
Azathioprine Approved Phase 2 446-86-6 2265
26
leucovorin Approved Phase 2 58-05-9 6006 143
27
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
28
Mycophenolic acid Approved Phase 2 24280-93-1 446541
29
Colchicine Approved Phase 2 64-86-8 6167 2833
30
Dapsone Approved, Investigational Phase 2 80-08-0 2955
31
Ethanol Approved Phase 2 64-17-5 702
32
Naltrexone Approved, Investigational, Vet_approved Phase 2 16590-41-3 5360515
33
Mesna Approved, Investigational Phase 2 3375-50-6 598
34
Pentostatin Approved, Investigational Phase 2 53910-25-1 439693 40926
35
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
36
Busulfan Approved, Investigational Phase 2 55-98-1 2478
37
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
38 Reverse Transcriptase Inhibitors Phase 2
39 Anti-Retroviral Agents Phase 2
40 Anti-HIV Agents Phase 2
41 Antiviral Agents Phase 2
42 Immunologic Factors Phase 2
43 Immunosuppressive Agents Phase 2
44 Antirheumatic Agents Phase 2
45 Antimetabolites Phase 2
46 Folic Acid Antagonists Phase 2
47 Vitamin B Complex Phase 2
48 Vitamin B9 Phase 2
49 Folate Phase 2
50 Anti-Infective Agents Phase 2

Interventional clinical trials:

(show all 26)
# Name Status NCT ID Phase Drugs
1 CHUSPAN PAN BP Treatment of Polyarteritis Nodosa and Microscopic Polyangiitis Without Poor-Prognosis Factors a Prospective Randomized Study in 125 Patients Unknown status NCT00400075 Phase 4 azathioprine;cyclophosphamide
2 Treatment of Necrotizing Vasculitides for Patients Older Than 65 Years Comparison of Two Strategies Combining Steroids With or Without Immunosuppressants Completed NCT00307671 Phase 4 prednisone, methylprednisolone,cyclophosphamides;Cyclophosphamide, Azathioprine,prednisone,methylprednisolone;Mycophenolate mofetil,methotrexate
3 Evaluation of a New Treatment Strategy for Patients With Microscopic Polyangiitis, Polyarteritis Nodosa or Eosinophilic Granulomatosis With Polyangiitis (Churg Strauss Syndrome) Without Poor Prognosis Factors Completed NCT00647166 Phase 3 corticosteroid and azathioprine;corticosteroid and placebo
4 Cyclophosphamide Versus Methotrexate for Remission Maintenance in Systemic Necrotizing Vasculitides. A Randomized Controlled Trial. Unknown status NCT00751517 Phase 2 Methotrexate;Cyclophosphamide
5 Lamivudine for Chronic Hepatitis B Completed NCT00001457 Phase 2 Lamivudine
6 An Open Trial of the Efficacy of Glucocorticoids and Methotrexate (MTX) in the Treatment of Systemic Vasculitis Completed NCT00001256 Phase 2 prednisone and methotrexate
7 A Randomized Multicenter Study for Isolated Skin Vasculitis Recruiting NCT02939573 Phase 2 Colchicine;Dapsone;Azathioprine
8 Low Dose Naltrexone to Improve Physical Health in Patients With Vasculitis Recruiting NCT03482479 Phase 2 Naltrexone Hydrochloride
9 Phase II Trial of Allogeneic Hematopoietic Cell Transplantation for Disorders of T-cell Proliferation and/or Dysregulation Recruiting NCT03663933 Phase 2 Immunosuppression Only Conditioning (IOC);Reduced Intensity Conditioning (RIC);GVHD Prophylaxis
10 Autologous Peripheral Blood Stem Cell Transplantation in Patients With Life Threatening Autoimmune Diseases Unknown status NCT00006055 anti-thymocyte globulin;cyclophosphamide;cyclosporine;filgrastim;methylprednisolone;prednisone
11 ACR/EULAR Endorsed Study to Develop New Diagnostic and Classification Criteria for Primary Systemic Vasculitis Unknown status NCT01066208
12 VCRC Validation of Patient-Reported Diagnostic Data Completed NCT02190942
13 Educational Needs of Patients With Systemic Vasculitis- an International Survey Completed NCT02190929
14 Illness Perception, Fatigue, and Function in Systemic Vasculitis (The VCRC Vasculitis Perception (VIP) Study) Completed NCT02190916
15 The Journey of Patients With Vasculitis From First Symptom to Diagnosis Completed NCT03410290
16 Reproductive Health in Men and Women With Vasculitis Completed NCT02176070
17 Impact of Vasculitis on Employment and Income. An Online Survey of Participants in the VCRC Patient Contact Registry Completed NCT02476292
18 A Staged Therapeutic Approach Using Cyclophosphamide and Methotrexate in the Treatment of Wegener's Granulomatosis and Related Vasculitides Completed NCT00001473
19 Clinical Transcriptomics in Systemic Vasculitis (CUTIS) Recruiting NCT03004326
20 VCRC Genetic Repository One-Time DNA Protocol Recruiting NCT01241305
21 The Vasculitis Pregnancy Registry (V-PREG) Recruiting NCT02593565
22 VCRC Tissue Biorepository Collection Protocol Recruiting NCT02967068
23 Studies of the Natural History, Pathogenesis, and Outcome of Idiopathic Systemic Vasculitis Recruiting NCT02257866
24 Chronic Childhood Vasculitis: Characterizing the Individual Rare Diseases to Improve Patient Outcomes Recruiting NCT02006134
25 ScleroBiotique: Longitudinal Characterization of Microbial Signature in Systemic Sclerosis Patients Recruiting NCT04132206
26 Longitudinal Protocol of Polyarteritis Nodosa Active, not recruiting NCT00315406

Search NIH Clinical Center for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome

Genetic Tests for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic...

Anatomical Context for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic...

MalaCards organs/tissues related to Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome:

40
Skin, Brain, Liver, Spleen, Kidney, Bone, Neutrophil

Publications for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic...

Articles related to Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome:

(show top 50) (show all 113)
# Title Authors PMID Year
1
Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations. 24 56 6
26867732 2016
2
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. 56 24 6
24552285 2014
3
Early-onset stroke and vasculopathy associated with mutations in ADA2. 6 56 24
24552284 2014
4
Vasculopathy, Immunodeficiency, and Bone Marrow Failure: The Intriguing Syndrome Caused by Deficiency of Adenosine Deaminase 2. 56 24 61
30406060 2018
5
Adenosine Deaminase 2 Deficiency 61 6
31393689 2019
6
Identification of Novel Adenosine Deaminase 2 Gene Variants and Varied Clinical Phenotype in Pediatric Vasculitis. 61 24
31008556 2019
7
Novel ADA2 mutation presenting with neutropenia, lymphopenia and bone marrow failure in patients with deficiency in adenosine deaminase 2 (DADA2). 61 24
30924144 2019
8
Deficiency of adenosine deaminase 2 triggers adenosine-mediated NETosis and TNF production in patients with DADA2. 61 24
31015188 2019
9
Deficiency of adenosine deaminase 2; special focus on central nervous system imaging. 24 61
29913178 2019
10
A 9.5-year-old boy with recurrent neurological manifestations and severe hypertension, treated initially for polyarteritis nodosa, was subsequently diagnosed with adenosine deaminase type 2 deficiency (DADA2) which responded to anti-TNF-α. 61 24
30642227 2019
11
Childhood Hodgkin Lymphoma: Think DADA2. 24 61
30644014 2019
12
Genetic testing for DADA2: How can we avoid missing patients? 61 24
30206352 2018
13
Warts and DADA2: a Mere Coincidence? 61 24
30386947 2018
14
ADA2 Deficiency Mimicking Idiopathic Multicentric Castleman Disease. 61 24
30139808 2018
15
Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and Treatment. 24 61
29951947 2018
16
A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience. 24 61
29681619 2018
17
Novel Mutation in CECR1 Leads to Deficiency of ADA2 with Associated Neutropenia. 24 61
29564582 2018
18
Deficiency of ADA2 mimicking autoimmune lymphoproliferative syndrome in the absence of livedo reticularis and vasculitis. 61 24
29271561 2018
19
Hematologic Manifestations of Deficiency of Adenosine Deaminase 2 (DADA2) and Response to Tumor Necrosis Factor Inhibition in DADA2-Associated Bone Marrow Failure. 61 24
29411230 2018
20
Deficiency of Adenosine Deaminase 2 in Adult Siblings: Many Years of a Misdiagnosed Disease With Severe Consequences. 24 61
29963054 2018
21
Clinical, imaging and genotypical features of three deceased and five surviving cases with ADA2 deficiency. 61 24
28516235 2018
22
Hematopoietic stem cell transplantation rescues the hematological, immunological, and vascular phenotype in DADA2. 61 24
28974505 2017
23
Deficiency of Adenosine Deaminase 2 (DADA2), an Inherited Cause of Polyarteritis Nodosa and a Mimic of Other Systemic Rheumatologic Disorders. 61 24
28983775 2017
24
ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study. 24 61
28522451 2017
25
Screening of 181 Patients With Antibody Deficiency for Deficiency of Adenosine Deaminase 2 Sheds New Light on the Disease in Adulthood. 61 24
28493328 2017
26
Refractory Pure Red Cell Aplasia Manifesting as Deficiency of Adenosine Deaminase 2. 24 61
28230570 2017
27
Monogenic polyarteritis: the lesson of ADA2 deficiency. 61 24
27609179 2016
28
Deficiency of Adenosine Deaminase 2 Causes Antibody Deficiency. 24 61
26922074 2016
29
Dermatologic Features of ADA2 Deficiency in Cutaneous Polyarteritis Nodosa. 61 24
26131734 2015
30
Mutant ADA2 in vasculopathies. 56
25075845 2014
31
Mutant ADA2 in vasculopathies. 56
25075846 2014
32
Mutant ADA2 in vasculopathies. 56
25075848 2014
33
ADA2 deficiency due to a novel structural variation in 22q11.1. 24
30920658 2019
34
Treatment Strategies for Deficiency of Adenosine Deaminase 2. 24
30995379 2019
35
Disrupted N-linked glycosylation as a disease mechanism in deficiency of ADA2. 24
29936104 2018
36
ADA2 deficiency: Clonal lymphoproliferation in a subset of patients. 24
29391253 2018
37
ALPS-Like Phenotype Caused by ADA2 Deficiency Rescued by Allogeneic Hematopoietic Stem Cell Transplantation. 24
30692987 2018
38
Autoimmune phenotype with type I interferon signature in two brothers with ADA2 deficiency carrying a novel CECR1 mutation. 24
28830446 2017
39
Extending the Clinical Phenotype of Adenosine Deaminase 2 Deficiency. 24
27514238 2016
40
Deficiency of Adenosine Deaminase Type 2: A Description of Phenotype and Genotype in Fifteen Cases. 24
27059682 2016
41
IL-17 receptor A and adenosine deaminase 2 deficiency in siblings with recurrent infections and chronic inflammation. 24
26607704 2016
42
ADA2 deficiency: case report of a new phenotype and novel mutation in two sisters. 24
27252897 2016
43
A Case Series of Adenosine Deaminase 2-deficient Patients Emphasizing Treatment and Genotype-phenotype Correlations. 24
26233953 2015
44
Hematopoietic stem cell transplantation rescues the immunologic phenotype and prevents vasculopathy in patients with adenosine deaminase 2 deficiency. 24
25457153 2015
45
Novel adenosine deaminase 2 mutations in a child with a fatal vasculopathy. 24
24737293 2014
46
Mutations in CECR1 associated with a neutrophil signature in peripheral blood. 24
25278816 2014
47
Safety of anti-TNF agents during pregnancy and breastfeeding in women with inflammatory bowel disease. 24
23752881 2013
48
Human adenosine deaminase 2 induces differentiation of monocytes into macrophages and stimulates proliferation of T helper cells and macrophages. 24
20453107 2010
49
Structural basis for the growth factor activity of human adenosine deaminase ADA2. 24
20147294 2010
50
Neurological toxicity of long-term (>1 yr) thalidomide therapy in patients with multiple myeloma. 24
15693790 2005

Variations for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic...

ClinVar genetic disease variations for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome:

6 (show top 50) (show all 64) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ADA2 NM_001282225.2(ADA2):c.1358A>G (p.Tyr453Cys)SNV Pathogenic 120299 rs376785840 22:17662794-17662794 22:17181904-17181904
2 ADA2 NM_001282225.2(ADA2):c.326C>A (p.Ala109Asp)SNV Pathogenic 120300 rs587777240 22:17688177-17688177 22:17207287-17207287
3 ADA2 NM_001282225.2(ADA2):c.140G>C (p.Gly47Ala)SNV Pathogenic 120301 rs200930463 22:17690428-17690428 22:17209538-17209538
4 ADA2 NM_001282225.2(ADA2):c.336C>G (p.His112Gln)SNV Pathogenic 120302 rs587777241 22:17688167-17688167 22:17207277-17207277
5 ADA2 NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln)SNV Pathogenic 120303 rs77563738 22:17687997-17687997 22:17207107-17207107
6 ADA2 NM_001282225.2(ADA2):c.752C>T (p.Pro251Leu)SNV Pathogenic 120305 rs148936893 22:17684454-17684454 22:17203564-17203564
7 ADA2 NM_001282225.2(ADA2):c.140G>T (p.Gly47Val)SNV Pathogenic 120306 rs200930463 22:17690428-17690428 22:17209538-17209538
8 ADA2 NM_001282225.2(ADA2):c.791G>C (p.Trp264Ser)SNV Pathogenic 120307 rs587777242 22:17672663-17672663 22:17191773-17191773
9 ADA2 NM_001282225.2(ADA2):c.1078A>G (p.Thr360Ala)SNV Pathogenic 189342 rs775440641 22:17669232-17669232 22:17188342-17188342
10 ADA2 NC_000022.10:g.(?_17669209)_(17669357_?)deldeletion Pathogenic 583460 22:17669209-17669357 22:17188319-17188467
11 ADA2 NM_001282225.2(ADA2):c.973-2A>GSNV Pathogenic 541735 rs139750129 22:17669339-17669339 22:17188449-17188449
12 ADA2 NM_001282225.2(ADA2):c.661_664del (p.Ala221fs)deletion Pathogenic 645215 22:17684542-17684545 22:17203654-17203657
13 ADA2 NM_001282225.2(ADA2):c.144del (p.Arg49fs)deletion Pathogenic 640066 22:17690424-17690424 22:17209540-17209540
14 ADA2 NM_001282225.2(ADA2):c.144dup (p.Arg49fs)duplication Pathogenic/Likely pathogenic 586963 22:17690424-17690424 22:17209534-17209534
15 ADA2 NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg)SNV Pathogenic/Likely pathogenic 120304 rs202134424 22:17690429-17690429 22:17209539-17209539
16 ADA2 NM_001282225.2(ADA2):c.1269C>G (p.Asn423Lys)SNV Likely pathogenic 522502 rs1226708979 22:17662883-17662883 22:17181993-17181993
17 ADA2 NM_001282225.2(ADA2):c.927G>A (p.Met309Ile)SNV Conflicting interpretations of pathogenicity 375247 rs146597836 22:17670877-17670877 22:17189987-17189987
18 ADA2 NM_001282225.2(ADA2):c.83T>C (p.Leu28Pro)SNV Uncertain significance 474909 rs777404100 22:17690485-17690485 22:17209595-17209595
19 ADA2 NM_001282225.2(ADA2):c.1531A>C (p.Lys511Gln)SNV Uncertain significance 474907 rs535337577 22:17662378-17662378 22:17181488-17181488
20 ADA2 NM_001282225.2(ADA2):c.145C>T (p.Arg49Trp)SNV Uncertain significance 375246 rs199614299 22:17690423-17690423 22:17209533-17209533
21 ADA2 NM_001282225.2(ADA2):c.1467G>C (p.Glu489Asp)SNV Uncertain significance 569098 22:17662442-17662442 22:17181552-17181552
22 ADA2 NM_001282225.2(ADA2):c.1423C>A (p.Leu475Met)SNV Uncertain significance 579801 22:17662729-17662729 22:17181839-17181839
23 ADA2 NM_001282225.2(ADA2):c.1385T>C (p.Ile462Thr)SNV Uncertain significance 566003 22:17662767-17662767 22:17181877-17181877
24 ADA2 NM_001282225.2(ADA2):c.359C>T (p.Thr120Ile)SNV Uncertain significance 578206 22:17688144-17688144 22:17207254-17207254
25 ADA2 NM_001282225.2(ADA2):c.194C>T (p.Thr65Met)SNV Uncertain significance 582996 22:17690374-17690374 22:17209484-17209484
26 ADA2 NC_000022.10:g.(?_17662353)_(17663671_?)dupduplication Uncertain significance 583739 22:17662353-17663671 22:17181463-17182781
27 ADA2 NM_001282225.2(ADA2):c.100C>T (p.Arg34Trp)SNV Uncertain significance 570286 22:17690468-17690468 22:17209578-17209578
28 ADA2 NM_001282225.2(ADA2):c.1172A>G (p.His391Arg)SNV Uncertain significance 541732 rs749413678 22:17663561-17663561 22:17182671-17182671
29 ADA2 NM_001282225.2(ADA2):c.729G>A (p.Met243Ile)SNV Uncertain significance 541734 rs151014930 22:17684477-17684477 22:17203587-17203587
30 ADA2 NM_001282225.2(ADA2):c.139G>T (p.Gly47Trp)SNV Uncertain significance 541731 rs202134424 22:17690429-17690429 22:17209539-17209539
31 ADA2 NM_001282225.2(ADA2):c.278T>C (p.Ile93Thr)SNV Uncertain significance 541730 rs767399919 22:17690290-17690290 22:17209400-17209400
32 ADA2 NM_001282225.2(ADA2):c.186G>T (p.Arg62Ser)SNV Uncertain significance 541729 rs1555887378 22:17690382-17690382 22:17209492-17209492
33 ADA2 NM_001282225.2(ADA2):c.1465G>C (p.Glu489Gln)SNV Uncertain significance 541736 rs45497794 22:17662444-17662444 22:17181554-17181554
34 ADA2 NM_001282225.2(ADA2):c.143G>A (p.Gly48Glu)SNV Uncertain significance 541733 rs140149634 22:17690425-17690425 22:17209535-17209535
35 ADA2 NM_001282225.2(ADA2):c.1069G>A (p.Ala357Thr)SNV Uncertain significance 582418 22:17669241-17669241 22:17188351-17188351
36 ADA2 NM_001282225.2(ADA2):c.935G>C (p.Arg312Pro)SNV Uncertain significance 573691 22:17670869-17670869 22:17189979-17189979
37 ADA2 NM_001282225.2(ADA2):c.434A>C (p.Gln145Pro)SNV Uncertain significance 474908 rs1437000359 22:17688069-17688069 22:17207179-17207179
38 ADA2 NM_001282225.2(ADA2):c.578C>T (p.Pro193Leu)SNV Uncertain significance 647422 22:17684628-17684628 22:17203738-17203738
39 ADA2 NM_001282225.2(ADA2):c.461G>A (p.Arg154His)SNV Uncertain significance 650936 22:17688042-17688042 22:17207152-17207152
40 ADA2 NM_001282225.2(ADA2):c.377G>A (p.Arg126Lys)SNV Uncertain significance 652758 22:17688126-17688126 22:17207236-17207236
41 ADA2 NM_001282225.2(ADA2):c.362T>C (p.Met121Thr)SNV Uncertain significance 652810 22:17688141-17688141 22:17207251-17207251
42 ADA2 NM_001282225.2(ADA2):c.1118A>T (p.Asp373Val)SNV Uncertain significance 648884 22:17663615-17663615 22:17182725-17182725
43 ADA2 NM_001282225.2(ADA2):c.1018G>T (p.Ala340Ser)SNV Uncertain significance 664669 22:17669292-17669292 22:17188402-17188402
44 ADA2 NM_001282225.2(ADA2):c.1007A>G (p.Asp336Gly)SNV Uncertain significance 658117 22:17669303-17669303 22:17188413-17188413
45 ADA2 NM_001282225.2(ADA2):c.950C>T (p.Thr317Met)SNV Uncertain significance 665280 22:17670854-17670854 22:17189964-17189964
46 ADA2 NM_001282225.2(ADA2):c.784G>A (p.Glu262Lys)SNV Uncertain significance 648652 22:17672670-17672670 22:17191780-17191780
47 ADA2 NM_001282225.2(ADA2):c.688C>T (p.Arg230Trp)SNV Uncertain significance 655737 22:17684518-17684518 22:17203628-17203628
48 ADA2 NM_001282225.2(ADA2):c.104C>T (p.Ala35Val)SNV Uncertain significance 651648 22:17690464-17690464 22:17209574-17209574
49 ADA2 NM_001282225.2(ADA2):c.79G>T (p.Ala27Ser)SNV Uncertain significance 652530 22:17690489-17690489 22:17209599-17209599
50 ADA2 NM_001282225.2(ADA2):c.26G>A (p.Arg9Gln)SNV Uncertain significance 649840 22:17690542-17690542 22:17209652-17209652

UniProtKB/Swiss-Prot genetic disease variations for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 ADA2 p.Gly47Arg VAR_071137 rs202134424
2 ADA2 p.Gly47Val VAR_071138 rs200930463
3 ADA2 p.Ala109Asp VAR_071139 rs587777240
4 ADA2 p.His112Gln VAR_071140 rs587777241
5 ADA2 p.Arg169Gln VAR_071141 rs77563738
6 ADA2 p.Pro251Leu VAR_071142 rs148936893
7 ADA2 p.Trp264Ser VAR_071143 rs587777242
8 ADA2 p.Tyr453Cys VAR_071144 rs376785840

Expression for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic...

Search GEO for disease gene expression data for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome.

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GO Terms for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic...

Sources for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic...

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